6397[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 3116182	NM_002268.5(KPNA4):c.1538A>G (p.Asn513Ser)	KPNA4 (N513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289240	NM_002268.5(KPNA4):c.1126C>T (p.Leu376Phe)	KPNA4 (L376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594945	NM_002268.5(KPNA4):c.1103A>G (p.Asn368Ser)	KPNA4 (N368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116183	NM_002268.5(KPNA4):c.851G>A (p.Gly284Glu)	KPNA4 (G284E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282626	NM_002268.5(KPNA4):c.833A>G (p.Gln278Arg)	KPNA4 (Q278R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259688	NM_002268.5(KPNA4):c.634A>G (p.Ile212Val)	KPNA4 (I212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717875	NM_002268.5(KPNA4):c.556+9A>T	KPNA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2245229	NM_002268.5(KPNA4):c.518T>C (p.Val173Ala)	KPNA4 (V173A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289241	NM_002268.5(KPNA4):c.185T>C (p.Ile62Thr)	KPNA4 (I62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654259	NM_002268.5(KPNA4):c.115-3A>T	KPNA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980545	GRCh37/hg19 3q25.33(chr3:160278259-160371431)x1	KPNA4	Copy number loss	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3359216	NM_002268.5(KPNA4):c.914T>A (p.Leu305His)	KPNA4 (L305H)	Single nucleotide variant (missense variant)	KPNA4-related condition	GUncertain significance

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Items: 32